Objectifs :  Décrire l’aspect neuropathologique des foetus porteurs de variants pathogènes dans VRK1. Travail pour publication, mis en ligne 12/23 Critères d’inclusion : Foetus porteurs de variants pathogènes bi allélique dans VRK1. Examen de cerveau, muscle et moelle souhaité Documents et matériel recherché : CR d’examen foetopathologique Photographies Consentement parantal Blocs en paraffine Cerveau, moelle et muscle Contact : Dr TESSIER Aude  

During the last Annual Meeting of the PPS held in Madrid this year, one of the oral presentations was about heterotopic liver tissue in the placenta. The published literature is poor and it became clear during the discussion that several colleagues had seen similar cases but not published them. Not only liver tissue heterotopia is found in the placenta, but also cortical adrenal tissue, adipose tissue and even a case… Lire la suite »Call for cases of Heterotopic Tissues in placenta

Targeted gene/phenotype/disorder under study:WBP11 (OMIM # 619227) AbstractWBP11 (WW domain binding protein 11) plays a critical role in mRNA processing and the Notch signaling pathway. Loss-of-function WBP11 variants have previously been associated with VATER association (PMID: 33276377).We have identified a family with dominantly inherited deleterious WBP11 variation. Clinical features include complex segmentation defects, kidney hypoplasia, and prenatal cerebellar stroke.We aim to characterize the phenotypic spectrum of this dominant VATER association… Lire la suite »Phenotypic characterization of a WBP11-related pseudo-VATER syndome